Variant report

Variant	nsv550929
Chromosome Location	chr10:55030113-55093531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr10:55040336-55040499	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:55070715-55071009	IMR90	lung:	n/a	chr10:55070859-55070872 chr10:55070861-55070870 chr10:55070861-55070870 chr10:55070861-55070870
3	CEBPB	chr10:55063725-55064069	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:55030423-55030723	A549	lung:	n/a	chr10:55030581-55030592
5	CEBPB	chr10:55063815-55064038	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr10:55063709-55063996	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr10:55077103-55077366	H1-hESC	embryonic stem cell:	n/a	chr10:55077105-55077118 chr10:55077104-55077121
8	CEBPB	chr10:55074637-55075013	IMR90	lung:	n/a	n/a
9	CEBPB	chr10:55030463-55030602	H1-hESC	embryonic stem cell:	n/a	chr10:55030581-55030592
10	CEBPB	chr10:55070800-55070915	H1-hESC	embryonic stem cell:	n/a	chr10:55070859-55070872 chr10:55070861-55070870 chr10:55070861-55070870 chr10:55070861-55070870
11	CEBPB	chr10:55030433-55030717	Hela-S3	cervix:	n/a	chr10:55030581-55030592
12	CEBPB	chr10:55030411-55030719	IMR90	lung:	n/a	chr10:55030581-55030592
13	CEBPB	chr10:55054100-55054129	K562	blood:	n/a	n/a
14	CEBPB	chr10:55063721-55064073	IMR90	lung:	n/a	n/a
15	CEBPB	chr10:55063756-55064049	A549	lung:	n/a	n/a
16	CEBPB	chr10:55030432-55030743	HepG2	liver:	n/a	chr10:55030581-55030592
17	CTCF	chr10:55031544-55031630	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr10:55058320-55058470	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr10:55075620-55075746	Medullo	brain:	n/a	n/a
20	CTCF	chr10:55031420-55031570	MCF-7	breast:	n/a	n/a
21	CTCF	chr10:55075560-55075710	AG04449	skin:	n/a	n/a
22	CTCF	chr10:55075620-55075770	AG04449	skin:	n/a	n/a
23	CTCF	chr10:55075600-55075750	RPTEC	kidney:	n/a	n/a
24	CTCF	chr10:55061660-55061810	GM12873	blood:	n/a	n/a
25	CTCF	chr10:55075595-55075789	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr10:55075600-55075724	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr10:55058340-55058490	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr10:55058280-55058505	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:55058280-55058430	GM12866	blood:	n/a	n/a
30	CTCF	chr10:55075580-55075730	HRE	kidney:	n/a	n/a
31	CTCF	chr10:55058368-55058439	MCF-7	breast:	n/a	n/a
32	CTCF	chr10:55075308-55076010	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr10:55058265-55058533	GM12878	blood:	n/a	n/a
34	CTCF	chr10:55031440-55031590	RPTEC	kidney:	n/a	n/a
35	CTCF	chr10:55046100-55046250	Caco-2	colon:	n/a	n/a
36	CTCF	chr10:55058322-55058470	Gliobla	brain:	n/a	n/a
37	CTCF	chr10:55058420-55058570	BE2_C	brain:	n/a	n/a
38	CTCF	chr10:55075556-55075788	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr10:55031580-55031730	NHEK	skin:	n/a	n/a
40	CTCF	chr10:55083340-55083490	AG10803	skin:	n/a	n/a
41	CTCF	chr10:55075529-55075845	GM12878	blood:	n/a	n/a
42	CTCF	chr10:55058380-55058530	NHEK	skin:	n/a	n/a
43	CTCF	chr10:55058260-55058410	NHEK	skin:	n/a	n/a
44	CTCF	chr10:55075589-55075808	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr10:55075540-55075690	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr10:55081204-55081221	GM20000	blood:	n/a	n/a
47	CTCF	chr10:55058320-55058470	AG04449	skin:	n/a	n/a
48	CTCF	chr10:55058240-55058390	GM12874	blood:	n/a	n/a
49	CTCF	chr10:55031440-55031590	BE2_C	brain:	n/a	n/a
50	CTCF	chr10:55031420-55031570	GM12869	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:55028397..55030475-chr10:55031728..55034713,2	K562	blood:
2	chr10:55057963..55058535-chr10:55568196..55569129,2	MCF-7	breast:
3	chr10:55028156..55030475-chr10:55032367..55034713,2	K562	blood:
4	chr10:55028397..55030475-chr10:55031728..55034713,2	K562	blood:
5	chr10:55028156..55030475-chr10:55032367..55034713,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH15-1	chr10:55050832-55051354	XLOC_008827
2	lnc-PCDH15-1	chr10:55070752-55070825	XLOC_008827

Variant related genes	Relation type
ENSG00000226296	TF binding region

Extended variants
information (count: 1541 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1541 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10824967	chr10:55030113-55030114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376085033	chr10:55030231-55030232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376687384	chr10:55030255-55030256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539504396	chr10:55030295-55030296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574916043	chr10:55030307-55030308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540812365	chr10:55030323-55030324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143308835	chr10:55030385-55030386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7893466	chr10:55030395-55030396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546529733	chr10:55030402-55030403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75829798	chr10:55030442-55030443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531206462	chr10:55030445-55030446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10824968	chr10:55030456-55030457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141359936	chr10:55030470-55030471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146970563	chr10:55030471-55030472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138208840	chr10:55030520-55030521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574980228	chr10:55030545-55030546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186301493	chr10:55030614-55030615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533015329	chr10:55030641-55030642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551144532	chr10:55030646-55030647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549665445	chr10:55030660-55030661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569977767	chr10:55030683-55030684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543973592	chr10:55030713-55030714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537840830	chr10:55030740-55030741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113919257	chr10:55030741-55030742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536471051	chr10:55030768-55030769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190179484	chr10:55030782-55030783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182754271	chr10:55030898-55030899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11003499	chr10:55030899-55030900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs143770859	chr10:55030921-55030922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2891442	chr10:55030944-55030945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576948070	chr10:55030963-55030964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556571713	chr10:55030987-55030988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576709537	chr10:55030988-55030989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534299890	chr10:55031003-55031004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150587713	chr10:55031040-55031041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367545891	chr10:55031046-55031047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10824969	chr10:55031077-55031078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527353606	chr10:55031138-55031139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10824970	chr10:55031145-55031146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563888966	chr10:55031315-55031316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532956862	chr10:55031323-55031324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369854005	chr10:55031354-55031355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112859585	chr10:55031370-55031371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138397668	chr10:55031373-55031374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548260656	chr10:55031397-55031398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146377062	chr10:55032007-55032008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542857754	chr10:55032054-55032055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs563520311	chr10:55032093-55032094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs182591622	chr10:55032108-55032109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549263928	chr10:55032125-55032126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55028000-55031200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:55031200-55031400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:55032000-55035400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:55032200-55032400	Enhancers	Stomach Mucosa	stomach
5	chr10:55044200-55045000	Enhancers	Stomach Mucosa	stomach
6	chr10:55046200-55046600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:55052800-55053800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:55053200-55053600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr10:55053400-55053800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:55053800-55054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:55064400-55064600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:55064600-55073200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:55069000-55069200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:55069200-55074600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:55073200-55073400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:55073400-55084800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:55074000-55075400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:55074000-55076200	Enhancers	NH-A	brain
19	chr10:55074200-55074400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:55074200-55075400	Enhancers	HMEC	breast
21	chr10:55074200-55075400	Enhancers	HSMM	muscle
22	chr10:55074200-55075400	Enhancers	NHEK	skin
23	chr10:55074200-55077800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr10:55074400-55075200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:55074600-55074800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr10:55074600-55074800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:55074600-55075000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:55074600-55075000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:55074600-55075000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr10:55074600-55075200	Enhancers	Fetal Kidney	kidney
31	chr10:55074600-55076000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:55074800-55075000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr10:55074800-55075000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:55074800-55075200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:55074800-55075200	Enhancers	HUVEC	blood vessel
36	chr10:55074800-55075600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:55074800-55076000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr10:55074800-55077600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr10:55074800-55077600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr10:55075000-55075200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:55075000-55075800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr10:55075000-55076000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:55075000-55076200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr10:55075000-55076400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:55075600-55075800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr10:55075800-55076200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr10:55076000-55077000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:55076000-55077600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr10:55076200-55077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr10:55076200-55077600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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